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Klinefelter's syndrome is a condition that occurs in men who have an extra X chromosome in most of their cells. The syndrome can affect different stages of physical, language and social development. The most common symptom is infertility. Because they often don't make as much of the male hormone testosterone as other boys, teenagers with Klinefelter's syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in.

It is important to start treatment as early as possible. With treatment, most boys grow up to have normal sex lives, successful careers and normal social relationships.Treatments include

Educational services

Physical, speech and occupational therapy

Medical treatments including testosterone replacement

NIH: National Institute of Child Health and Human Development

Definition (NCI)

A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

Definition (NCI_NCI-GLOSS)

A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer.

Definition (CSP)

genetic disease that produces sterile males with small testes lacking sperm due to XXY karyotype.

Definition (MSH)

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

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This page was written by Scott Moses, MD, last revised on 10/21/2007 and last published on 12/2/2018.